Up at 5AM: The 5AM Solutions Blog

Should We, Maybe, Dial Back Personalized Medicine?

Posted on Thu, Jun 25, 2015 @ 03:00 PM

The short answer to our provocative headline is no. But two other recent headlines got us pondering the question. Yesterday, the New York Times, and on Monday, the Journal of the American Medical Association(JAMA) published, respectively,  a story and an opinion piece on the potential downsides to medicine that is aimed at specific genetic profiles.

Read More

Tags: clinical trials, personalized medicine, genetic testing, precision medicine

GINA and the "Mystery of the Devious Defecators"

Posted on Tue, Jun 23, 2015 @ 03:00 PM

[A disclaimer: you probably won’t want to read this post while having lunch at your desk.]

Read More

Tags: genetic testing, GINA

New Standard Moves NGS Closer to Clinical Practice

Posted on Tue, May 19, 2015 @ 03:00 PM

Last week, the National Institute of Standards and Technology (NIST,) working through the  Genome in a Bottle Consortium (GIABC) (a NIST-funded and initiated working group) pushed next generation sequencing (NGS) a little closer to being adopted into regular clinical practice. NIST/GIABC have released a standard for measuring the accuracy of genetic tests. 

Read More

Tags: personalized medicine, map of biomedicine, genetic testing, NGS Sequencing

Newborn Screening is Personal

Posted on Tue, Aug 12, 2014 @ 03:15 PM

It's no secret that we human beings will go to great lengths to keep our families safe and healthy. In the late 1940s, Dr. Robert Guthrie, a cancer doctor, learned that his son, John had mental retardation. About a decade later, after switching his focus to finding the causes of mental retardation, Dr. Guthrie's niece was born with phenylketonuria (PKU), a genetic disorder that prevents the body from metabolizing the amino acid phenylalanine. Untreated, PKU can lead to mental retardation. 

Read More

Tags: genetic testing, 5AM, newborn screening

Genomic Research: Whose Data Is It? What's Important?

Posted on Thu, Dec 15, 2011 @ 06:00 AM

Admittedly, I am a bit behind in my journals, so I only recently read articles in Nature entitled Secrets of the Human Genome Disclosed and Genomes on Prescription. The first article was about geneticist Ghoulson Lyon, who presented a research study at a conference on a family suffering from an unknown, apparently genetic, disease. He was trying to find genetic variants associated with the disease, which caused some male children in the family to die before they reached their first birthday.

Read More

Tags: genomics tools, genomic data, genetic testing, human genome, genetic mutation


Diagnostic Tests on the Map of Biomedicine


Download the ebook based on our popular blog series. This free, 50+ page edition features updated, expanded posts and redesigned, easier-to-read maps. 

FREE Biobanking Ebook

Biobanking Free Ebook
Get this 29 page PDF document on how data science can be used to advance biorepositories.

 Free NGS Whitepaper

NGS White Paper for Molecular Diagnostics

Learn about the applications, opportunities and challenges in this updated free white paper. 

Recent Posts